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Genetic counseling: Diabetic Embryopathy
Diabetic Embryopathy Etiology and natural history *Diabetic embryopathy is a clinical diagnosis based on one or more congenital anomalies or fetal/neonatal complications in a baby that are attributed to his/her mother's diabetes *Three main kinds of diabetes mellitus; if a mother has any of these three types, there is a significant risk for pregnancy complications and future health problems for mother and her offspring **Type I ***Insulin dependent ***Juvenile onset ***Prone to ketosis ***Body does not produce insulin because cells that produce insulin are attacked by immune system ***Multifactorial causes, but those with family history are at higher risk ***Tx: daily insulin injections **Type II ***Non-insulin dependent ***Adult onset ***Not prone to ketosis ***Body does not produce enough insulin or cells cannot use insulin properly ***Inherited as an incompletely penetrating AR trait, but is definitely multifactorial ***Tx: diet, exercise, and sometimes medication **Type III (Gestational diabetes) ***Onset during pregnancy ***Multifactorial causes, but those with family history of any diabetes are at higher risk ***Tx: consistent monitoring of blood sugar level, diet and exercise; occasionally, insulin is required ***Occurs in 1-4% of all pregnancies (higher in African American and Hispanic populations) ***20-50% of women who develop gestational diabetes will develop type II diabetes in the next 5-10 years. *High blood sugar levels and ketones (substances that in large amounts are poisonous to the body) pass through the placenta to the baby, increasing the chance of birth defects *When extra sugar is in a mother's blood during pregnancy, the baby is "fed" extra sugar, too, leading to a bigger baby that is harder to deliver *It is not well-understood if the administration of insulin has teratogenic effects on the fetus; however, outcomes are definitely better when insulin is used to treat insulin-dependent maternal diabetes than when not Clinical features *All maternal and fetal features noted here are more severe and/or common when diabetic control is poor during pregnancy; nevertheless, even with good diabetic control, these features are observed *Maternal morbidity factors in diabetic pregnancies which can increase a baby's risk for birth defects: **Ketoacidosis **Polyhydramnios **Preeclampsia/chronic hypertension **Preterm labor **Cesarean section *Fetal complications and birth defects associated with maternal diabetes **Cardiac anomalies: most commonly VSD or TGV **DiGeorge anomaly: due to abnormal neural crest cell migration; affects normal fetal development of the heart, thymus, and parathyroid glands **NTD's: thought to be due to maternal diabetic factors causing improper embryonic folding; most commonly spina bifida and anencephaly **Macrosomia: occurs in ~ 1/3 of all diabetic pregnancies; can cause life-long obesity for child **IUGR: thought to be due to nutrient limitation associated with maternal hypertension. **SAB: debated somewhat, but appears to be increased in pregnancies with poor diabetic control **Caudal regression: agenesis of sacrum and lumbar spine, hypoplasia of lower extremities; thought to be due to improper embryonic folding caused by maternal diabetic factors **Abnormal postnatal neurologic development: thought to be due to effects of ketosis *Perinatal and neonatal complications associated with maternal diabetes **Fetal asphyxia: can cause cerebral palsy as well as affecting many other systems such as pulmonary, GI, and cardiovascular **Preterm birth: can lead to respiratory distress syndrome; occurs in ~ 30% of diabetic pregnancies, even when diabetic control has been meticulous **Hypoglycemia: can cause seizures, coma, and brain damage if not recognized and treated quickly **Hypocalcemia and hypomagnesemia: thought to be caused primarily by premature birth and its affects on parathyroid function **Hyperbilirubinemia: thought to be caused primarily by premature birth **Cardiomyopathy and/or cardiomegaly: most commonly seen in macrosomic infants of poorly controlled diabetic mothers Surveillance and Treatment *Preconceptionally **Counseling recommended for all women with overt diabetes or a history of gestational diabetes **Severity of woman's disease should be considered **Woman should be apprised of possible complications to herself and her child *During pregnancy **Should be handled by a team of healthcare workers including: perinatologist, endocrinologist, dietician, and social worker **Patient should be seen every 4-8 weeks, and should be considered "high risk" **Mother should be closely monitored for diabetic control so that adjustments can be made for insulin, diet, and exercise ***Insulin therapy can be altered in many ways, including continuous subcutaneous infusion if necessary ***Must be careful to not over-insulinize mother and cause hypoglycemia **Surveillance for health risks to mother should be closely monitored, including: cardiovascular health, renal function, blood pressure, weight gain **Maternal serum screening should be done at 16 weeks **Fetus should be monitored regularly via level II ultrasound for detection of macrosomia, IUGR, cardiac anomalies, NTDs, and any other associated conditions *At birth **Delaying delivery until term is often contraindicated when baby is macrosomic or when mother is preeclampsic **Cesarean section rate is about 30-50% in diabetic pregnancies **Delivery should occur at facility prepared to deal with fetal and maternal complications associated with diabetic pregnancy *Postpartum management **Infant should be closely monitored for associated conditions; EKG and serum tests should be run **Mother's insulin should be closely monitored; many women need less insulin directly following delivery Psychosocial issues *Guilt on mother's part for risks and complications to her baby *Anxiety about own health due to having a high risk pregnancy *Financial concerns over costly prenatal and postnatal care *Fear about possible outcomes of pregnancy Sources *Creasy, RK and Resnik, R. 1994. Maternal-Fetal Medicine : Principles and Practice, 3rd ed. Ch. 54 : "Diabetes in pregnancy" (p.934-978). W.B. Saunders Company : Philadelphia. *American Diabetes Association Homepage-http://www.diabetes.org *Larsen, W.J. 2001. Human Embryology, 3rd ed. Churchill Livingstone : New York. Notes The information in this outline was last updated in 2003. This material has been imported fom the wikibook "Genetic counseling"[ http://en.wikibooks.org/wiki/Genetic_counseling] under the GNU Free Documentation License.